Paul D. Kempinski President and Chief Executive Officer | Children's Mercy Hospital K.C.
Paul D. Kempinski President and Chief Executive Officer | Children's Mercy Hospital K.C.
Children’s Mercy Hospital in Kansas City has introduced a new gene sequencing technology known as five-base, long-read sequencing. This approach offers a more detailed view of the human genome compared to traditional methods.
The hospital was the first clinic to offer whole genome sequencing ten years ago. Now, it is leading efforts with this advanced method, which not only identifies the four standard DNA bases (A, G, C, T), but also shows how cells interpret and use these bases.
Dr. Tomi Pastinen, director of the Genomic Answers for Kids program at Children’s Mercy Hospital, explained the importance of this development: “So we have about 10,000 rare genetic diseases, and each of those is characterized by a different problem in the genome,” said Pastinen. “A single letter changed among the 6 billion letters in your genome can lead to a devastating disease and early death, even in the worst case scenario.”
Pastinen led the initial clinical study on five-base, long-read sequencing. The findings were published this month in JAMA Pediatrics.
The hospital's new technique aims to improve diagnosis for children with rare genetic diseases by providing faster and more accurate results through a single test.
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